ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Systematic design and comparison of expanded carrier screening panels.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.Orphanet journal of rare diseases · 2023Pooled it
- Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders.Genome medicine · 2026Article
- MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.Journal of translational medicine · 2026Article
- Expanding carrier screening: beyond the genes, to include underrepresented ancestries.NPJ genomic medicine · 2025Article
- Advancements in Prenatal Genetic Screening and Testing: Emerging Technologies and Evolving Applications.Diagnostics (Basel, Switzerland) · 2025Review
- How women respond to uncertainty in the context of genetic screening: A qualitative analysis framed by the uncertainty tolerance model.Journal of genetic counseling · 2025Article
- Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China.Scientific reports · 2025Article
- Expanded carrier screening for inherited genetic disease using exome and genome sequencing.Journal of genetic counseling · 2025Article
- Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome.Journal of translational medicine · 2025Article
- Evaluating the Applied Knowledge of BRCA Testing among Spanish-Preferring Latino Americans: The Influence of Acculturation and Literacy.Public health genomics · 2025Article
- Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.BMC medical genomics · 2024Article
- Populational pan-ethnic screening panel enabled by deep whole genome sequencing.NPJ genomic medicine · 2023Article
- Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.Journal of assisted reproduction and genetics · 2023Article
- Awareness and utilization of genetic testing among Hispanic and Latino adults living in the US: The Hispanic Community Health Study/Study of Latinos.HGG advances · 2023Article
- A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders.NPJ genomic medicine · 2022Article
- Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies.Journal of assisted reproduction and genetics · 2022Review
- Views of patients and parents of children with genetic disorders on population-based expanded carrier screening.Prenatal diagnosis · 2022Article
- Current Updates on Expanded Carrier Screening: New Insights in the Omics Era.Medicina (Kaunas, Lithuania) · 2022Review
- A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.NPJ genomic medicine · 2022Article
- Evaluating the efficacy of three carrier screening workflows designed to identify at-risk carrier couples.Prenatal diagnosis · 2021Article
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeThe recent growth in pan-ethnic expanded carrier screening (ECS) has raised questions about how such panels might be designed and evaluated systematically. Design principles for ECS panels might improve clinical detection of at-risk couples and facilitate objective discussions of panel choice.MethodsGuided by medical-society statements, we propose a method for the design of ECS panels that aims to maximize the aggregate and per-disease sensitivity and specificity across a range of Mendelian disorders considered serious by a systematic classification scheme. We evaluated this method retrospectively using results from 474,644 de-identified carrier screens. We then constructed several idealized panels to highlight strengths and limitations of different ECS methodologies.ResultsBased on modeled fetal risks for "severe" and "profound" diseases, a commercially available ECS panel (Counsyl) is expected to detect 183 affected conceptuses per 100,000 US births. A screen's sensitivity is greatly impacted by two factors: (i) the methodology used (e.g., full-exon sequencing finds more affected conceptuses than targeted genotyping) and (ii) the detection rate of the screen for diseases with high prevalence and complex molecular genetics (e.g., fragile X syndrome).ConclusionThe described approaches enable principled, quantitative evaluation of which diseases and methodologies are appropriate for pan-ethnic expanded carrier screening.
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